ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2407C>T (p.Gln803Ter)

dbSNP: rs1567848213
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000685435 SCV000812916 pathogenic Neurofibromatosis, type 1 2024-09-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln803*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 21354044). ClinVar contains an entry for this variant (Variation ID: 565792). For these reasons, this variant has been classified as Pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000702 SCV001157743 pathogenic not specified 2018-07-10 criteria provided, single submitter clinical testing The NF1 c.2407C>T; p.Gln803Ter variant, is reported in the literature in at least one individual affected with neurofibromatosis type 1 (Valero 2011). This variant is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Valero MC et al. A highly sensitive genetic protocol to detect NF1 mutations. J Mol Diagn. 2011 Mar;13(2):113-22.
Genome-Nilou Lab RCV000685435 SCV002561760 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
GeneDx RCV004788114 SCV005401380 likely pathogenic not provided 2024-05-14 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, Kamis2021[article], 21354044)
Ambry Genetics RCV004993940 SCV005454577 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-10-11 criteria provided, single submitter clinical testing The p.Q803* pathogenic mutation (also known as c.2407C>T), located in coding exon 20 of the NF1 gene, results from a C to T substitution at nucleotide position 2407. This changes the amino acid from a glutamine to a stop codon within coding exon 20. This variant has been identified in individuals reported to meet clinical criteria for neurofibromatosis type 1 (Ambry internal data, Valero MC et al. J Mol Diagn, 2011 Mar;13:113-22). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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